Chromosome 1 loci in Finnish schizophrenia families.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1611
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 15
Results: 10
1
2
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington’s disease (HD) transcripts and is activated in HD tissue.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1531
- By:
- Publication type:
- Article
3
Processing of β -dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15
- By:
- Publication type:
- Article
4
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, p. 1591, doi. 10.1093/hmg/10.15.1591
- By:
- Publication type:
- Article
5
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1555
- By:
- Publication type:
- Article
6
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1539
- By:
- Publication type:
- Article
7
A specific promoter of the sensory cells of the inner ear defined by transgenesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1581
- By:
- Publication type:
- Article
8
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15
- By:
- Publication type:
- Article
9
Distant cis -elements regulate imprinted expression of the mouse p57 [sup Kip2] (Cdkn1c )[sup ] gene: implications for the human disorder, Beckwith–Wiedemann syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1601
- By:
- Publication type:
- Article
10
Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 15, doi. 10.1093/hmg/10.15.1571
- By:
- Publication type:
- Article